Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559352550
rs1559352550
SCN2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1559353540
rs1559353540
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs181327458
rs181327458
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906686
rs387906686
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs587780450
rs587780450
SCN2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs746163041
rs746163041
SCN2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs796053122
rs796053122
SCN2A
0.700 GeneticVariation UNIPROT

dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs796053178
rs796053178
SCN2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs796053197
rs796053197
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs794727152
rs794727152
SCN2A
A 0.700 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148

2017
dbSNP: rs121917753
rs121917753
SCN2A
0.810 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs121917748
rs121917748
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs121917749
rs121917749
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs121917750
rs121917750
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs121917751
rs121917751
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs121917752
rs121917752
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs121917754
rs121917754
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs1553463119
rs1553463119
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs387906687
rs387906687
SCN2A
0.800 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648

2001
dbSNP: rs121917753
rs121917753
SCN2A
0.810 GeneticVariation UNIPROT A novel SCN2A mutation in family with benign familial infantile seizures. 16417554

2006
dbSNP: rs121917748
rs121917748
SCN2A
0.800 GeneticVariation UNIPROT A novel SCN2A mutation in family with benign familial infantile seizures. 16417554

2006
dbSNP: rs121917749
rs121917749
SCN2A
0.800 GeneticVariation UNIPROT A novel SCN2A mutation in family with benign familial infantile seizures. 16417554

2006
dbSNP: rs121917750
rs121917750
SCN2A
0.800 GeneticVariation UNIPROT A novel SCN2A mutation in family with benign familial infantile seizures. 16417554

2006